Ingenuity Systems, Golden Helix, and DNAnexus are the first to join the initiative.
Complete Genomics has initiated a Genomic Discovery Software Partners Program. Ingenuity Systems, Golden Helix, and DNAnexus have been chosen as initial partners because they have offerings that complement the information supplied by Complete Genomics’ sequencing service and can expedite genetic research for customers.
“Researchers have been using advanced analysis, storage, and visualization capabilities from our partners to complement our mapping, genome assembly, variant calling, and annotation capabilities,” explains Clifford Reid, Ph.D., chairman, president, and CEO of Complete Genomics. “We are launching this program to let the entire genetic research community know that these partners offer solutions compatible with Complete Genomics’ data that can accelerate the pace of biological discoveries.”
Ingenuity Variant Analysis™ is a software product focused on enabling rapid filtering and annotation of variants from human re-sequencing studies. It helps researchers prioritize among millions of variants and identify those that are most likely to be biologically significant. This tool leverages Ingenuity’s Knowledge Base, a database of over 4 million findings on the connections between genomic variants and biological pathways gleaned from peer-reviewed journals, literature, and other public genomic data sources. It can reportedly identify causal variants for a rare disease, driver variants for a particular cancer, or variants associated with response or nonresponse to a therapeutic or rare adverse event.
“Accurate biological interpretation is critical to efficiently identify causal variants from DNA re-sequencing studies,” states Peter van der Spek, Ph.D., Erasmus University Medical Center. Dr. van der Spek’s recent work with Complete Genomics and Ingenuity Systems resulted in the identification of a novel causal variant for craniosynostosis-1 a congenital malformation of the skull.
Golden Helix’ SNP and Variation Suite (SVS) is a desktop solution that combines powerful variant classification, bioinformatic filtering, functional annotation, visualization, and statistical analysis capabilities into one flexible product. By allowing customers to take control of individual steps within the analysis process, SVS empowers them to quickly uncover statistically significant genotype-phenotype associations or causal variants in large-scale data, the company notes.
DNAnexus will provide an instant genomics data and analysis center with its cloud-based solutions for customers’ sequencing data. DNAnexus offers feature-rich data visualization and interpretation tools to view and filter variant, CNV, SV, and read data through a web service that requires no additional software or hardware investment.